Update on hypertrophic cardiomyopathy and a guide to the guidelines

• Published in: Nature reviews cardiology Vol. 13; no. 11; pp. 651 - 675
• Main Authors: Sen-Chowdhry, Srijita, Jacoby, Daniel, Moon, James C., McKenna, William J.
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 01.11.2016; Nature Publishing Group
• Subjects: 692/4019/592/2727; 692/4019/592/75/74/1540; 692/420/2489/144; Cardiac Imaging; Cardiac Surgery; Cardiology; Cardiology - standards; Cardiomyopathy, Hypertrophic - diagnosis; Cardiomyopathy, Hypertrophic - mortality; Cardiomyopathy, Hypertrophic - physiopathology; Cardiomyopathy, Hypertrophic - therapy; Care and treatment; Diagnosis; Evaluation; Humans; Hypertrophic cardiomyopathy; Medicine & Public Health; Practice guidelines (Medicine); Practice Guidelines as Topic - standards; Predictive Value of Tests; review-article; Treatment Outcome
• ISSN: 1759-5002; 1759-5010; 1759-5010
• DOI: 10.1038/nrcardio.2016.140

Key Points Although the ACC Foundation (ACCF)/AHA and ESC guidelines show widespread concordance, the ESC definition of hypertrophic cardiomyopathy (HCM) includes nonsarcomeric disease states associated with load-independent left ventricular hypertrophy (LVH) Relatives of patients with HCM should be offered screening; autosomal dominant inheritance is typical, and a range of electrocardiographic and imaging features are recognized to precede the development of LVH Prognostic assessment at baseline and follow-up is recommended for all patients with HCM; despite recognizing many of the same predictors of sudden death, the ACCF/AHA and ESC adopt distinct approaches to risk profiling Specialist HCM centres promote implementation of best-practice guidelines by offering facilities and skills for investigations such as exercise stress echocardiography, cardiovascular magnetic resonance (CMR), and genetic analysis, in addition to high-volume programmes for invasive septal reduction Patients referred to specialist HCM centres also benefit from multidisciplinary support systems and clinical experience in interpreting equivocal clinical findings, adjudicating borderline risk profiles, and managing complex cases Advances in the evaluation of HCM include CMR-based T1 mapping for demonstrating diffuse and interstitial fibrosis; in the therapeutic arena, several putative substrate-modulating agents are progressing from preclinical to clinical trials Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease. In this Review, Sen-Chowdhry et al . discuss the guideline recommendations for the evaluation and management of HCM, and provide a summary of the important advances in genetics, imaging, and molecular research on HCM. Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disorder, affecting 1 in 500 individuals worldwide. Existing epidemiological studies might have underestimated the prevalence of HCM, however, owing to limited inclusion of individuals with early, incomplete phenotypic expression. Clinical manifestations of HCM include diastolic dysfunction, left ventricular outflow tract obstruction, ischaemia, atrial fibrillation, abnormal vascular responses and, in 5% of patients, progression to a 'burnt-out' phase characterized by systolic impairment. Disease-related mortality is most often attributable to sudden cardiac death, heart failure, and embolic stroke. The majority of individuals with HCM, however, have normal or near-normal life expectancy, owing in part to contemporary management strategies including family screening, risk stratification, thromboembolic prophylaxis, and implantation of cardioverter–defibrillators. The clinical guidelines for HCM issued by the ACC Foundation/AHA and the ESC facilitate evaluation and management of the disease. In this Review, we aim to assist clinicians in navigating the guidelines by highlighting important updates, current gaps in knowledge, differences in the recommendations, and challenges in implementing them, including aids and pitfalls in clinical and pathological evaluation. We also discuss the advances in genetics, imaging, and molecular research that will underpin future developments in diagnosis and therapy for HCM.